T214I (p.Thr214Ile) variant of BTD (Biotinidase)
T214I (p.Thr214Ile) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T214I (p.Thr214Ile) variant details
- p.Thr214Ile
- rs587783005
- ClinGen CA278439
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- Pathogenic/Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.96
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)